PLA2G12A Gene - Phospholipase A2 Group XIIA
Comprehensive genomic and proteomic analysis of PLA2G12A, a secreted phospholipase involved in lipid metabolism and signaling.
Gene Information Card
| Symbol | PLA2G12A |
|---|---|
| Full Name | Phospholipase A2 Group XIIA |
| Gene Type | Protein coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 81579 ncbi.nlm.nih.gov/gene/81579 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9BZM1 |
| OMIM ID | 611726 |
| HGNC ID | 18538 |
| Aliases | GXIIA, PLA2G12, sPLA2-XIIA |
Description
PLA2G12A encodes a member of the secreted phospholipase A2 (sPLA2) family. This enzyme catalyzes the hydrolysis of the sn-2 position of glycerophospholipids to release free fatty acids and lysophospholipids, playing a role in lipid metabolism, inflammation, and cell signaling. The protein is widely expressed and has been implicated in various physiological and pathological processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered lipid metabolism and signaling via arachidonic acid release; overexpression may promote tumor progression. | PubMed (PMID: 21502544) |
| Inflammatory Bowel Disease | Increased expression in inflamed mucosa; contributes to eicosanoid production and inflammation. | PubMed (PMID: 23300456) |
| Atherosclerosis | Modulation of LDL oxidation and foam cell formation through phospholipid hydrolysis. | PubMed (PMID: 19008405) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.2 | Medium |
| Liver | 3.8 | Low |
| Kidney | 4.1 | Low |
| Lung | 6.7 | Medium |
| Pancreas | 2.3 | Low |
| Prostate | 8.9 | Medium |
| Testis | 12.1 | High |
| Colon | 7.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.5 | Hepatocellular carcinoma cell line |
| A549 | 6.1 | Lung adenocarcinoma cell line |
| MCF7 | 3.2 | Breast cancer cell line |
| PC3 | 9.8 | Prostate cancer cell line |
| HT29 | 7.0 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337G>A (p.Gly113Arg) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
| c.544C>T (p.Arg182Trp) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss variant (p.Met1Val) likely abolishes translation.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase A2 activity (GO:0004623) | • lipid catabolic process (GO:0016042) |
| • phospholipid metabolic process (GO:0006644) | • extracellular region (GO:0005576) |
| • plasma membrane (GO:0005886) |
Pathways
• Phospholipid metabolism (Reactome: R-HSA-1483206)
• Arachidonic acid metabolism (KEGG: hsa00590)
• Inflammatory mediator regulation of TRP channels (KEGG: hsa04750)
Protein Summary
PLA2G12A is a 168-amino acid secreted phospholipase A2 with a conserved catalytic domain. It exhibits calcium-dependent phospholipase activity and is involved in the production of lysophospholipids and free fatty acids, including arachidonic acid. The protein is expressed in multiple tissues and cell types, with highest levels in testis. Its role in inflammation and cancer is under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLA2G12A Knockout HEK293 Cell Line | EDJ-KQ1261 | Human | 81579 | Details Get a Quote |
| PLA2G12A Knockout A-549 Cell Line | EDJ-KQ19284 | Human | 81579 | Details Get a Quote |
| PLA2G12A Knockout HCT 116 Cell Line | EDJ-KQ20641 | Human | 81579 | Details Get a Quote |
| PLA2G12A Knockout HeLa Cell Line | EDJ-KQ20642 | Human | 81579 | Details Get a Quote |
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